New Autism Cure - breakthrough treatments and cures for autism

Last week, I looked at how genetic abnormalities may be linked to autism and today I’m going to take that a bit further and look at the link between the genetic codes, autoimmune diseases, autism and gluten - an interesting recipe!

Some researchers are suggesting that there is a link between parents who suffer with auto-immune diseases like lupus, type 1 diabetes, Graves’ Disease or Hashimoto’s Disease, celiac disease and autoimmune adrenal insufficiency, and children who have autism spectrum disorders. These scientists believe that a parent’s autoimmune deficiency can make their child more susceptible to autism spectrum disorders in the following ways:-

• Toxins or pathogens may be able to damage the developing brain of the developing child.
• A pathogen may trigger an autoimmune response that could interfere with normal brain functioning.
• In utero, the mother’s immune deficiency may allow a pathogen to damage the brain of the fetus directly or by triggering an immune response in the mother that then “creates pathogenesis in the fetal brain” - see Utah State University’s Study “Possible Immunogenetic Basis for Autism” http://www3.interscience.wiley.com/journal/79073/abstract?CRETRY=1&SRETRY=0.

Two studies - “Familial Clustering of Autoimmune Disorders and Evaluation of Medical Risk Factors in Autism” by J Child Neurol (1999) and “Increased Prevalence of Familial Autoimmunity in Probands with Pervasive Developmental Disorders” T L Sweeten et al. (2003)suggested that there is a link between a family history of autoimmune disorders and autistic children because autistic children are more likely to have a family history of autoimmune disorders than healthy children in a control group. It was found that over 40% of families with an autistic child had two or more close family members with an autoimmune disorder and that those with first-degree relatives, particularly their mothers, were most often affected.

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If you have read my previous blog posts, you will know that I do not believe that autism is caused by just one thing but that it is a multifactorial condition which can be caused by a number of factors -so, is genetics one of these factors?

Research Linking Genetic Defects and Autism

There is a significant amount of research out there that links autism spectrum disorders with genetic defects. Here’s what studies have found:-

• The work of geneticist Thomas Bourgeron - Bourgeron, a French geneticist, published a study in 2003 that showed that families of several autistic children had mutations in the NLGN3 and NLGN4X genes which led to a complete loss of function in these genes, triggering autism in the children. These two genes are responsible for the manufacture of neuroligin proteins which are needed by the body for the structure of nerve cell contacts.
• Gottingen Study - A study in Gottingen, published in the scientific journal “Neuron” and in Science Daily in September 2006, like Bourgeron’s work, showed that neuroligin proteins are essential for transmitting signals between nerve cell functions and that the brains of genetically altered mice, which did not have neuroligins, did not function properly because the synapses (the contact points at which the nerve cells communicate) never matured. The researchers of this study concluded that autism patients suffer with similar malfunctions due to neuroligin mutations.
• The work of Mark J Daly - Research headed by geneticist Mark J Daly of Massachusetts General Hospital has found that the risk of autism is increased one-hundredfold by “deletions or duplications of a specific small segment of chromosome 16″. The research team found this genetic defect in autistic children but not their parents, which suggests that sometime after fertilization there was spontaneous mutation in the location 16p11.2, a location known as a “genetic hot spot” because it is so susceptible to mutations.
• A defect in the CNTNAP2 gene - Three different research groups all reported in January 2008 (in the American Journal of Human Genetics” that a defective CNTNAP2 gene (also known as contactin-associated protein-like 2) was linked to autism and that it increased the risk of autism by 20% in children who inherited the gene from their mothers, although a mutated gene could be inherited from the father too.
• The work of Eric Morrow and Christopher Walsh - Morrow and Walsh, who led a research team from Harvard University, found that a set of six genes that are linked to brain development in the first year of a baby’s life are abnormal in many children with autism. The researchers also made the breakthrough that these 6 genes were not always completely deleted in children with autism, but that in some cases mutations in the surrounding control regions of the children’s DNA were keeping the genes “switched off”. This was encouraging as it could mean that therapy or medication could be used to activate the genes and allow normal brain development.
• Mitochondrial Disease and Autism - Dr John Shoffner, president of Medical Neurogenetics and an associate professor of biology at Georgia University, completed a “retrospective analysis” of 37 autistic children and found that 65% of them had mitochondrial defects. In other large studies, Shoffner says that 20% of children with autism have been found to “have markers of mitochondrial disease in the blood”.
• Gene mutations in 27 different genetic regions linked to autism - Research by geneticists from The Children’s Hospital of Philadelphia, University of Pennsylvania School of Medicine and other institutions, found that there are 27 different genetic regions in autistic children where there are missing or extra copies of DNA segments, but that these are not found in healthy children. It is thought that the combination of genetic deletions and duplications interferes with gene function, disrupting the production of the proteins needed for proper brain development.
• US National Institutes of Health Research - A report by BBC News stated that research funded by the US National Institutes of Health found that genetic factors play a strong role in autism and that autism cases could be cut  by 15% if one common genetic variant was corrected. The research found that genetic variants of two genes found on chromosome 5 were linked to autism spectrum disorders.

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